esv3644076

Organism: Homo sapiens

Study:estd214 (1000 Genomes Consortium Phase 3)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:29
Validation:Not tested
Clinical Assertions: No
Region Size:88,424

Publication(s):1000 Genomes Project Consortium et al. 2015

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 471 SVs from 56 studies. See in: genome view

Remapped(Score: Perfect):27,645,796-27,736,219

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3644076	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	27,646,796 (-1000, +500)	27,735,219 (-500, +1000)
esv3644076	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	28,137,704 (-1000, +500)	28,226,127 (-500, +1000)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv16030673	deletion	SAMN00004679	Sequencing	Read depth and paired-end mapping	Heterozygous	2,446
essv16030674	deletion	SAMN00006402	Sequencing	Read depth and paired-end mapping	Heterozygous	2,495
essv16030675	deletion	SAMN00006404	Sequencing	Read depth and paired-end mapping	Heterozygous	2,621
essv16030676	deletion	SAMN00009219	Sequencing	Read depth and paired-end mapping	Heterozygous	2,507
essv16030677	deletion	SAMN00009220	Sequencing	Read depth and paired-end mapping	Heterozygous	2,532
essv16030678	deletion	SAMN00009223	Sequencing	Read depth and paired-end mapping	Heterozygous	2,450
essv16030679	deletion	SAMN00014428	Sequencing	Read depth and paired-end mapping	Heterozygous	2,660
essv16030680	deletion	SAMN00249854	Sequencing	Read depth and paired-end mapping	Heterozygous	2,541
essv16030681	deletion	SAMN00255130	Sequencing	Read depth and paired-end mapping	Heterozygous	2,596
essv16030682	deletion	SAMN00262990	Sequencing	Read depth and paired-end mapping	Heterozygous	2,814
essv16030683	deletion	SAMN00630250	Sequencing	Read depth and paired-end mapping	Heterozygous	2,763
essv16030684	deletion	SAMN00630251	Sequencing	Read depth and paired-end mapping	Heterozygous	2,787
essv16030685	deletion	SAMN01761590	Sequencing	Read depth and paired-end mapping	Heterozygous	2,886
essv16030686	deletion	SAMN00801880	Sequencing	Read depth and paired-end mapping	Heterozygous	2,575
essv16030687	deletion	SAMN00000464	Sequencing	Read depth and paired-end mapping	Heterozygous	2,512
essv16030688	deletion	SAMN00000466	Sequencing	Read depth and paired-end mapping	Heterozygous	2,613
essv16030689	deletion	SAMN00000485	Sequencing	Read depth and paired-end mapping	Heterozygous	2,624
essv16030690	deletion	SAMN00000488	Sequencing	Read depth and paired-end mapping	Heterozygous	2,451
essv16030691	deletion	SAMN00000491	Sequencing	Read depth and paired-end mapping	Heterozygous	2,474
essv16030692	deletion	SAMN00000500	Sequencing	Read depth and paired-end mapping	Heterozygous	2,369
essv16030693	deletion	SAMN00000502	Sequencing	Read depth and paired-end mapping	Heterozygous	2,545
essv16030694	deletion	SAMN00001053	Sequencing	Read depth and paired-end mapping	Heterozygous	2,754
essv16030695	deletion	SAMN00000552	Sequencing	Read depth and paired-end mapping	Heterozygous	2,797
essv16030696	deletion	SAMN00000556	Sequencing	Read depth and paired-end mapping	Heterozygous	2,844
essv16030697	deletion	SAMN00000569	Sequencing	Read depth and paired-end mapping	Heterozygous	2,809
essv16030698	deletion	SAMN00004472	Sequencing	Read depth and paired-end mapping	Heterozygous	2,485
essv16030699	deletion	SAMN00004483	Sequencing	Read depth and paired-end mapping	Heterozygous	2,814
essv16030700	deletion	SAMN00004486	Sequencing	Read depth and paired-end mapping	Heterozygous	2,746
essv16030701	deletion	SAMN00007960	Sequencing	Read depth and paired-end mapping	Heterozygous	2,602

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv16030673	Remapped	Perfect	NC_000019.10:g.(27 645796_27647296)_( 27734719_27736219) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	27,646,796 (-1000, +500)	27,735,219 (-500, +1000)
essv16030674	Remapped	Perfect	NC_000019.10:g.(27 645796_27647296)_( 27734719_27736219) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	27,646,796 (-1000, +500)	27,735,219 (-500, +1000)
essv16030675	Remapped	Perfect	NC_000019.10:g.(27 645796_27647296)_( 27734719_27736219) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	27,646,796 (-1000, +500)	27,735,219 (-500, +1000)
essv16030676	Remapped	Perfect	NC_000019.10:g.(27 645796_27647296)_( 27734719_27736219) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	27,646,796 (-1000, +500)	27,735,219 (-500, +1000)
essv16030677	Remapped	Perfect	NC_000019.10:g.(27 645796_27647296)_( 27734719_27736219) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	27,646,796 (-1000, +500)	27,735,219 (-500, +1000)
essv16030678	Remapped	Perfect	NC_000019.10:g.(27 645796_27647296)_( 27734719_27736219) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	27,646,796 (-1000, +500)	27,735,219 (-500, +1000)
essv16030679	Remapped	Perfect	NC_000019.10:g.(27 645796_27647296)_( 27734719_27736219) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	27,646,796 (-1000, +500)	27,735,219 (-500, +1000)
essv16030680	Remapped	Perfect	NC_000019.10:g.(27 645796_27647296)_( 27734719_27736219) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	27,646,796 (-1000, +500)	27,735,219 (-500, +1000)
essv16030681	Remapped	Perfect	NC_000019.10:g.(27 645796_27647296)_( 27734719_27736219) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	27,646,796 (-1000, +500)	27,735,219 (-500, +1000)
essv16030682	Remapped	Perfect	NC_000019.10:g.(27 645796_27647296)_( 27734719_27736219) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	27,646,796 (-1000, +500)	27,735,219 (-500, +1000)
essv16030683	Remapped	Perfect	NC_000019.10:g.(27 645796_27647296)_( 27734719_27736219) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	27,646,796 (-1000, +500)	27,735,219 (-500, +1000)
essv16030684	Remapped	Perfect	NC_000019.10:g.(27 645796_27647296)_( 27734719_27736219) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	27,646,796 (-1000, +500)	27,735,219 (-500, +1000)
essv16030685	Remapped	Perfect	NC_000019.10:g.(27 645796_27647296)_( 27734719_27736219) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	27,646,796 (-1000, +500)	27,735,219 (-500, +1000)
essv16030686	Remapped	Perfect	NC_000019.10:g.(27 645796_27647296)_( 27734719_27736219) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	27,646,796 (-1000, +500)	27,735,219 (-500, +1000)
essv16030687	Remapped	Perfect	NC_000019.10:g.(27 645796_27647296)_( 27734719_27736219) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	27,646,796 (-1000, +500)	27,735,219 (-500, +1000)
essv16030688	Remapped	Perfect	NC_000019.10:g.(27 645796_27647296)_( 27734719_27736219) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	27,646,796 (-1000, +500)	27,735,219 (-500, +1000)
essv16030689	Remapped	Perfect	NC_000019.10:g.(27 645796_27647296)_( 27734719_27736219) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	27,646,796 (-1000, +500)	27,735,219 (-500, +1000)
essv16030690	Remapped	Perfect	NC_000019.10:g.(27 645796_27647296)_( 27734719_27736219) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	27,646,796 (-1000, +500)	27,735,219 (-500, +1000)
essv16030691	Remapped	Perfect	NC_000019.10:g.(27 645796_27647296)_( 27734719_27736219) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	27,646,796 (-1000, +500)	27,735,219 (-500, +1000)
essv16030692	Remapped	Perfect	NC_000019.10:g.(27 645796_27647296)_( 27734719_27736219) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	27,646,796 (-1000, +500)	27,735,219 (-500, +1000)
essv16030693	Remapped	Perfect	NC_000019.10:g.(27 645796_27647296)_( 27734719_27736219) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	27,646,796 (-1000, +500)	27,735,219 (-500, +1000)
essv16030694	Remapped	Perfect	NC_000019.10:g.(27 645796_27647296)_( 27734719_27736219) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	27,646,796 (-1000, +500)	27,735,219 (-500, +1000)
essv16030695	Remapped	Perfect	NC_000019.10:g.(27 645796_27647296)_( 27734719_27736219) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	27,646,796 (-1000, +500)	27,735,219 (-500, +1000)
essv16030696	Remapped	Perfect	NC_000019.10:g.(27 645796_27647296)_( 27734719_27736219) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	27,646,796 (-1000, +500)	27,735,219 (-500, +1000)
essv16030697	Remapped	Perfect	NC_000019.10:g.(27 645796_27647296)_( 27734719_27736219) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	27,646,796 (-1000, +500)	27,735,219 (-500, +1000)
essv16030698	Remapped	Perfect	NC_000019.10:g.(27 645796_27647296)_( 27734719_27736219) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	27,646,796 (-1000, +500)	27,735,219 (-500, +1000)
essv16030699	Remapped	Perfect	NC_000019.10:g.(27 645796_27647296)_( 27734719_27736219) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	27,646,796 (-1000, +500)	27,735,219 (-500, +1000)
essv16030700	Remapped	Perfect	NC_000019.10:g.(27 645796_27647296)_( 27734719_27736219) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	27,646,796 (-1000, +500)	27,735,219 (-500, +1000)
essv16030701	Remapped	Perfect	NC_000019.10:g.(27 645796_27647296)_( 27734719_27736219) del	GRCh38.p12	First Pass	NC_000019.10	Chr19	27,646,796 (-1000, +500)	27,735,219 (-500, +1000)
essv16030673	Submitted genomic		NC_000019.9:g.(281 36704_28138204)_(2 8225627_28227127)d el	GRCh37 (hg19)		NC_000019.9	Chr19	28,137,704 (-1000, +500)	28,226,127 (-500, +1000)
essv16030674	Submitted genomic		NC_000019.9:g.(281 36704_28138204)_(2 8225627_28227127)d el	GRCh37 (hg19)		NC_000019.9	Chr19	28,137,704 (-1000, +500)	28,226,127 (-500, +1000)
essv16030675	Submitted genomic		NC_000019.9:g.(281 36704_28138204)_(2 8225627_28227127)d el	GRCh37 (hg19)		NC_000019.9	Chr19	28,137,704 (-1000, +500)	28,226,127 (-500, +1000)
essv16030676	Submitted genomic		NC_000019.9:g.(281 36704_28138204)_(2 8225627_28227127)d el	GRCh37 (hg19)		NC_000019.9	Chr19	28,137,704 (-1000, +500)	28,226,127 (-500, +1000)
essv16030677	Submitted genomic		NC_000019.9:g.(281 36704_28138204)_(2 8225627_28227127)d el	GRCh37 (hg19)		NC_000019.9	Chr19	28,137,704 (-1000, +500)	28,226,127 (-500, +1000)
essv16030678	Submitted genomic		NC_000019.9:g.(281 36704_28138204)_(2 8225627_28227127)d el	GRCh37 (hg19)		NC_000019.9	Chr19	28,137,704 (-1000, +500)	28,226,127 (-500, +1000)
essv16030679	Submitted genomic		NC_000019.9:g.(281 36704_28138204)_(2 8225627_28227127)d el	GRCh37 (hg19)		NC_000019.9	Chr19	28,137,704 (-1000, +500)	28,226,127 (-500, +1000)
essv16030680	Submitted genomic		NC_000019.9:g.(281 36704_28138204)_(2 8225627_28227127)d el	GRCh37 (hg19)		NC_000019.9	Chr19	28,137,704 (-1000, +500)	28,226,127 (-500, +1000)
essv16030681	Submitted genomic		NC_000019.9:g.(281 36704_28138204)_(2 8225627_28227127)d el	GRCh37 (hg19)		NC_000019.9	Chr19	28,137,704 (-1000, +500)	28,226,127 (-500, +1000)
essv16030682	Submitted genomic		NC_000019.9:g.(281 36704_28138204)_(2 8225627_28227127)d el	GRCh37 (hg19)		NC_000019.9	Chr19	28,137,704 (-1000, +500)	28,226,127 (-500, +1000)
essv16030683	Submitted genomic		NC_000019.9:g.(281 36704_28138204)_(2 8225627_28227127)d el	GRCh37 (hg19)		NC_000019.9	Chr19	28,137,704 (-1000, +500)	28,226,127 (-500, +1000)
essv16030684	Submitted genomic		NC_000019.9:g.(281 36704_28138204)_(2 8225627_28227127)d el	GRCh37 (hg19)		NC_000019.9	Chr19	28,137,704 (-1000, +500)	28,226,127 (-500, +1000)
essv16030685	Submitted genomic		NC_000019.9:g.(281 36704_28138204)_(2 8225627_28227127)d el	GRCh37 (hg19)		NC_000019.9	Chr19	28,137,704 (-1000, +500)	28,226,127 (-500, +1000)
essv16030686	Submitted genomic		NC_000019.9:g.(281 36704_28138204)_(2 8225627_28227127)d el	GRCh37 (hg19)		NC_000019.9	Chr19	28,137,704 (-1000, +500)	28,226,127 (-500, +1000)
essv16030687	Submitted genomic		NC_000019.9:g.(281 36704_28138204)_(2 8225627_28227127)d el	GRCh37 (hg19)		NC_000019.9	Chr19	28,137,704 (-1000, +500)	28,226,127 (-500, +1000)
essv16030688	Submitted genomic		NC_000019.9:g.(281 36704_28138204)_(2 8225627_28227127)d el	GRCh37 (hg19)		NC_000019.9	Chr19	28,137,704 (-1000, +500)	28,226,127 (-500, +1000)
essv16030689	Submitted genomic		NC_000019.9:g.(281 36704_28138204)_(2 8225627_28227127)d el	GRCh37 (hg19)		NC_000019.9	Chr19	28,137,704 (-1000, +500)	28,226,127 (-500, +1000)
essv16030690	Submitted genomic		NC_000019.9:g.(281 36704_28138204)_(2 8225627_28227127)d el	GRCh37 (hg19)		NC_000019.9	Chr19	28,137,704 (-1000, +500)	28,226,127 (-500, +1000)
essv16030691	Submitted genomic		NC_000019.9:g.(281 36704_28138204)_(2 8225627_28227127)d el	GRCh37 (hg19)		NC_000019.9	Chr19	28,137,704 (-1000, +500)	28,226,127 (-500, +1000)
essv16030692	Submitted genomic		NC_000019.9:g.(281 36704_28138204)_(2 8225627_28227127)d el	GRCh37 (hg19)		NC_000019.9	Chr19	28,137,704 (-1000, +500)	28,226,127 (-500, +1000)
essv16030693	Submitted genomic		NC_000019.9:g.(281 36704_28138204)_(2 8225627_28227127)d el	GRCh37 (hg19)		NC_000019.9	Chr19	28,137,704 (-1000, +500)	28,226,127 (-500, +1000)
essv16030694	Submitted genomic		NC_000019.9:g.(281 36704_28138204)_(2 8225627_28227127)d el	GRCh37 (hg19)		NC_000019.9	Chr19	28,137,704 (-1000, +500)	28,226,127 (-500, +1000)
essv16030695	Submitted genomic		NC_000019.9:g.(281 36704_28138204)_(2 8225627_28227127)d el	GRCh37 (hg19)		NC_000019.9	Chr19	28,137,704 (-1000, +500)	28,226,127 (-500, +1000)
essv16030696	Submitted genomic		NC_000019.9:g.(281 36704_28138204)_(2 8225627_28227127)d el	GRCh37 (hg19)		NC_000019.9	Chr19	28,137,704 (-1000, +500)	28,226,127 (-500, +1000)
essv16030697	Submitted genomic		NC_000019.9:g.(281 36704_28138204)_(2 8225627_28227127)d el	GRCh37 (hg19)		NC_000019.9	Chr19	28,137,704 (-1000, +500)	28,226,127 (-500, +1000)
essv16030698	Submitted genomic		NC_000019.9:g.(281 36704_28138204)_(2 8225627_28227127)d el	GRCh37 (hg19)		NC_000019.9	Chr19	28,137,704 (-1000, +500)	28,226,127 (-500, +1000)
essv16030699	Submitted genomic		NC_000019.9:g.(281 36704_28138204)_(2 8225627_28227127)d el	GRCh37 (hg19)		NC_000019.9	Chr19	28,137,704 (-1000, +500)	28,226,127 (-500, +1000)
essv16030700	Submitted genomic		NC_000019.9:g.(281 36704_28138204)_(2 8225627_28227127)d el	GRCh37 (hg19)		NC_000019.9	Chr19	28,137,704 (-1000, +500)	28,226,127 (-500, +1000)
essv16030701	Submitted genomic		NC_000019.9:g.(281 36704_28138204)_(2 8225627_28227127)d el	GRCh37 (hg19)		NC_000019.9	Chr19	28,137,704 (-1000, +500)	28,226,127 (-500, +1000)

dbVar

Database of genomic structural variation

esv3644076

Links to Other Resources

Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.